ImmunoDeficiency Resource (IDR)

Patients with Hoyeraal-Hreidarsson syndrome show growth retardation and microcephaly in the first months of life. The first symptoms of pancytopenia do not occur before the age of 5 months and continue to increase for years. The cerebellum is proportionately small. Dyskeratosis congenita is characterised by cutaneous pigmentation, nail distrophy, and oral leukoplakia, and is complicated by malignancy and bone marow failure. Variable immune defects are found hypogamaglobulinemia and poor delayed-type hypersensitivity. Hoyeraal-Hreidarsson syndrome may be a severe form of dyskeratosis congenita in which affected individuals die before characteristic mucocutaneous features develop.